Request for Information (RFI): Facilitating the Early Diagnosis and Equitable Delivery of Gene-Targeted Therapies to Individuals with Rare Diseases
Notice Number:

Key Dates

Release Date:

May 11, 2021

Response Date:
June 30, 2021 as per NOT-TR-21-029

Related Announcements

NOT-TR-21-029 - Notice to Extend the Response Date for NOT-TR-21-027

Issued by

National Center for Advancing Translational Sciences (NCATS)


This Request for Information (RFI) solicits input on identifying challenges related to the early identification of individuals who could potentially benefit from gene-targeted therapies and the roadblocks to the equitable and timely delivery of such therapies to them.

Before submitting a response, please review this entire RFI notice to ensure you prepare and submit a comprehensive response within the scope of this RFI, as well as ensure your full understanding of how your response will be used.


Currently, scientific and technological advances are offering the hope of new therapies for individuals with rare diseases. However, this change is occurring at a pace that has the potential for significantly challenging the existing diagnostic and delivery infrastructure for efficient, effective, and equitable delivery of these therapies to patients. It is important, therefore, to plan and prepare for these challenges, and any changes that will need to be implemented to improve the process of getting more treatments to more patients, more quickly.

Gene-targeted therapies have the ability to provide treatments to multiple disorders rapidly. Gene-targeted therapeutics, such as virus-mediated gene replacement, somatic genome editing and oligonucleotide therapies, directly target the causative molecular defect in genetic diseases. For example, recently discovered gene editing approaches can, in principle, correct approximately 90% of all human disease-causing mutations.

These technologies are fundamentally different from most previously developed therapies for individual diseases in that they are therapeutic platforms that can be developed for individual patients based solely on knowledge of disease-causing genetic mutations, independent of clinical disease. There is also the potential to utilize common vectors and platforms to treat multiple disorders caused by different disease-causing mutations in the same gene or in different genes, affording economies of scale.

The broad therapeutic potential of gene-targeted therapies across multiple diseases contrasts with the specificity inherent in current healthcare, industry, and public health practices, including newborn screening. In the US, identification of potential gene-therapies recipients is almost entirely based upon screening for diagnosis of, and therapy for, specific individual diseases. Clinicians, patients, and families may also not be aware that gene-targeted therapies are available for their specific rare disorder. In addition, therapies are generally believed to be most effective in the early stages of a disorder or in the pre-symptomatic period before irreversible consequences of the disease have manifested, and the timing of therapeutics delivery is often critical to their success.

Information Requested

To ensure that gene-targeted therapies move beyond the research environment to a public health environment it is essential that pre-clinical research, clinical research, and dissemination of knowledge leading to appropriate clinical implementation be made available in an effective, efficient, and equitable manner. This RFI invites stakeholders throughout the scientific research, advocacy, clinical practice, industry, patient and lay communities, including the general public, to comment on the following areas related to the effective, efficient and equitable distribution of gene-targeted therapies.

  1. To develop infrastructure for the efficient, effective, and equitable distribution of therapies it is important to define the following:
  • Consider who are the individuals that could benefit from gene-targeted therapies now and in the future
  • Consider what rare diseases or categories of rare diseases are most amenable to gene-targeted therapies now and in the future
  • Consider when is the optimal time to identify individuals who could benefit from gene-targeted therapies (e.g., newborn screening)
  1. Consider what type of infrastructure is required to disseminate gene-targeted therapies to individuals with rare diseases in need of treatment using the following:
  • Consider the current mechanisms for diagnosing and identifying individuals with rare diseases for gene-targeted therapies
  • Consider howow can the early diagnostic process be improved; Consider other models that can be developed and used to better identify individuals who can benefit from rare disease therapies in a timely manner
  • Consider what other methods/platforms to identify such individuals that could be leveraged and list and/or describe.
  • Consider ifthere are currently any public/private partnerships in existence that support gene-targeted therapies andlist and/or describe.
  • Consider if a system that provides for a few patients can transition to a system that is comprehensive without becoming insolvent
  • Consider the current means of communicating information related to gene-targeted therapies to primary care physicians and other healthcare providers
  • Consider methods we should use to communicate with healthcare providers, patients, and families regarding gene-targeted therapies and list and/or describe
  1. Consider the methodsthat will ensure equitable access to gene-targeted therapies

Consider the following:

  • Consider how can we address potential disparities in access to these therapies
  • Consider what can be done to encourage collaboration and increased communication among various stakeholders.
  • Consider what currently facilitates provision of, or inversely limits access to targeted therapies for patients with rare diseases and list and/or describe
  • Consider what type of innovations are needed to enable and support development of gene-targeted therapies in a timely fashion
  1. In general, consider what needs to be improved to deliver gene-targeted therapies to individuals who need them in an efficient, effective, equitable, and timely manner

NIH encourages organizations (e.g., patient advocacy groups, professional organizations) to submit a single response reflective of the views of the organization or membership as a whole.

How to Submit a Response

All comments must be submitted electronically on the

Deidentified summaries of the responses will be shared on June 3rd, 10th and 17th at the NIH roundtable meeting Gene-Targeted Therapies: Early Diagnosis and Equitable Delivery.

Responses must be received by 11:59:59 pm (ET) on June 30, 2021.

Responses to this RFI are voluntary and may be submitted anonymously. You may voluntarily include your name and contact information with your response. If you choose to provide NIH with this information, NIH will not share your name and contact information outside of NIH unless required by law.

Other than your name and contact information, please do not include any personally identifiable information or any information that you do not wish to make public. Proprietary, classified, confidential, or sensitive information should not be included in your response. The Government will use the information submitted in response to this RFI at its discretion. Other than your name and contact information, the Government reserves the right to use any submitted information on public websites, in reports, in summaries of the state of the science, in any possible resultant solicitation(s), grant(s), or cooperative agreement(s), or in the development of future funding opportunity announcements.This RFI is for informational and planning purposes only and is not a solicitation for applications or an obligation on the part of the Government to provide support for any ideas identified in response to it. Please note that the Government will not pay for the preparation of any information submitted or for use of that information.

We look forward to your input and hope that you will share this RFI opportunity with your colleagues.


Please direct all inquiries to:

Tiina K. Urv, Ph.D.
National Center for Advancing Translational Sciences (NCATS)

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